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Page 1
Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.
Kaisaki PJ, Cutts A, Popitsch N, Camps C, Pentony MM, Wilson G, Page S, Kaur K, Vavoulis D, Henderson S, Gupta A, Middleton MR, Karydis I, Talbot DC, Schuh A, Taylor JC. Kaisaki PJ, et al. PLoS One. 2016 Sep 14;11(9):e0162809. doi: 10.1371/journal.pone.0162809. eCollection 2016. PLoS One. 2016. PMID: 27626278 Free PMC article.
Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden.
Cazier JB, Rao SR, McLean CM, Walker AK, Wright BJ, Jaeger EE, Kartsonaki C, Marsden L, Yau C, Camps C, Kaisaki P; Oxford-Illumina WGS500 Consortium; Taylor J, Catto JW, Tomlinson IP, Kiltie AE, Hamdy FC. Cazier JB, et al. Nat Commun. 2014 Apr 29;5:3756. doi: 10.1038/ncomms4756. Nat Commun. 2014. PMID: 24777035 Free PMC article.
Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Hamblin A, Wordsworth S, Fermont JM, Page S, Kaur K, Camps C, Kaisaki P, Gupta A, Talbot D, Middleton M, Henderson S, Cutts A, Vavoulis DV, Housby N, Tomlinson I, Taylor JC, Schuh A. Hamblin A, et al. PLoS Med. 2017 Feb 14;14(2):e1002230. doi: 10.1371/journal.pmed.1002230. eCollection 2017 Feb. PLoS Med. 2017. PMID: 28196074 Free PMC article.
Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series.
Domingo E, Camps C, Kaisaki PJ, Parsons MJ, Mouradov D, Pentony MM, Makino S, Palmieri M, Ward RL, Hawkins NJ, Gibbs P, Askautrud H, Oukrif D, Wang H, Wood J, Tomlinson E, Bark Y, Kaur K, Johnstone EC, Palles C, Church DN, Novelli M, Danielsen HE, Sherlock J, Kerr D, Kerr R, Sieber O, Taylor JC, Tomlinson I. Domingo E, et al. Among authors: kaisaki pj. Lancet Gastroenterol Hepatol. 2018 Sep;3(9):635-643. doi: 10.1016/S2468-1253(18)30117-1. Epub 2018 Jul 2. Lancet Gastroenterol Hepatol. 2018. PMID: 30042065 Free PMC article. Clinical Trial.
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A; DDD Study; Blair E, Taylor JC, Stewart H. Pagnamenta AT, et al. Among authors: kaisaki pj. Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30859559 Free PMC article.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: kaisaki pj. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.
Brown JH, Bihoreau MT, Hoffmann S, Kränzlin B, Tychinskaya I, Obermüller N, Podlich D, Boehn SN, Kaisaki PJ, Megel N, Danoy P, Copley RR, Broxholme J, Witzgall R, Lathrop M, Gretz N, Gauguier D. Brown JH, et al. Among authors: kaisaki pj. J Am Soc Nephrol. 2005 Dec;16(12):3517-26. doi: 10.1681/ASN.2005060601. Epub 2005 Oct 5. J Am Soc Nephrol. 2005. PMID: 16207829
51 results